Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.

Heb 5.7, Jesus' Prayer on the Mount of Olives and Jewish Christianity: Hearing Early Christian Voices in Canonical and Apocryphal Texts

(Résumé de l'ouvrage) The book of Hebrews has often been the Cinderella of the New Testament, overlooked and marginalized; and yet it is one of the most interesting and theologically significant books in the New Testament. A Cloud of Witness examines the theology of the book in the light of its ancient historical context. There are chapters devoted to the structure of Hebrews, the person of Jesus Christ, Hebrews within the context of Second Temple Judaism and the Greco-Roman empire and the role of Hebrews in early Christian thought.

Perceived stress, coping strategies and optimism in hearing mothers of deaf children.

Tesis (Maestría en Ciencias con Orientación en Psicología de la Salud) UANL, 2012.

The rights to a hearing and to a lawful judge in the spanish constitutional system

Right to Audience and Right to a Lawful Judge are presumed to be two of the most important guaranties for the rule of law. Both liberties are established in the Spanish Constitution of 1978 as “fundamental rights”, and they are included as a part of a most generic right: the right to due process of law. Along this text, I will try to show its content and significance, according to the sentences of the Spanish “Tribunal Constitucional”, passed through more than 25 years.

Canonical syllable reduplication in infants with sensorineural hearing loss. 'Reduplicación y mezcla de sílabas balbuceadas en niños con hipoacusia'.

Resumen en español. Resumen basado en el de la publicación

La transici??n al mundo laboral de los j??venes con deficiencias auditivias = Entry into working life of youth with hearing difficulties

Resumen basado en el del autor

Social training activities and resources for hearing impaired students in elementary school

This paper provides resources to help hearing impaired students in primary and elementary grades with personal and social competency training.

Reading fluency in children who are deaf or hard of hearing

This literature review explores the role of reading fluency in children who are deaf or hard of hearing and the essential role reading fluency plays in reading comprehension. The information gathered in this paper supports the importance of direct instruction of reading fluency with children who are deaf or hard of hearing.

A comparative study of the creative expressions in paint and clay of deaf and hearing children

This paper discusses the results of study to determine differences in artwork done by hearing impaired and normal hearing children.

Recall of deaf and normally hearing children on a short term memory task

This paper discusses memory and hearing impaired children.

Improving hearing aid users' satisfaction through a market survey, instructional video, and booklet

This paper discusses an instructional video and booklet developed to improve hearing aid users’ satisfaction and to educate audiologists on the importance of proper post-fit counseling.

Optical environment in classrooms for hearing-impaired children: recent developments and continuing needs

This paper is a review of the literature regarding design of classrooms for hearing impaired children.

Analysis of return patterns of digital hearing aids

This paper examines the return rate for digital hearing aids and reason for the returns.

Distortion product otoacoustic emissions in children with profound sensorineural hearing losses

This paper presents information on the reliability of distortion product otoacoustic emissions in children with profound sensorineural hearing losses.